ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.267C>A (p.Leu89=)

gnomAD frequency: 0.00002  dbSNP: rs755794553
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000867811 SCV001009075 likely benign Chuvash polycythemia; Von Hippel-Lindau syndrome 2023-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002427149 SCV002744687 likely benign Hereditary cancer-predisposing syndrome 2022-07-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002487905 SCV002797897 likely benign Chuvash polycythemia; Pheochromocytoma; Von Hippel-Lindau syndrome; Nonpapillary renal cell carcinoma 2021-08-17 criteria provided, single submitter clinical testing

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